Statements (50)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
neurodegenerative disease
|
| gptkbp:affects |
gptkb:basal_ganglia
gptkb:cerebral_cortex central nervous system |
| gptkbp:alsoKnownAs |
gptkb:Huntington_disease
HD |
| gptkbp:associatedWith |
CAG trinucleotide repeat expansion
|
| gptkbp:averageAgeOfOnset |
30-50 years
|
| gptkbp:averageSpeed |
15-20 years after onset
|
| gptkbp:casualties |
yes
|
| gptkbp:category |
neurodegenerative disease
genetic disorder rare disease movement disorder |
| gptkbp:causedBy |
mutation in HTT gene
|
| gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
| gptkbp:firstDescribed |
gptkb:George_Huntington
1872 |
| gptkbp:geneticTestAvailable |
yes
|
| https://www.w3.org/2000/01/rdf-schema#label |
Huntington’s disease
|
| gptkbp:ICD-10_code |
G10
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:involvesProtein |
huntingtin
|
| gptkbp:MeSH_ID |
D006816
|
| gptkbp:namedAfter |
gptkb:George_Huntington
|
| gptkbp:OMIM |
143100
|
| gptkbp:onset |
adulthood
rarely juvenile |
| gptkbp:prevalence |
3-7 per 100,000 people of European descent
|
| gptkbp:progression |
progressive
|
| gptkbp:riskFactor |
family history
|
| gptkbp:symptom |
gptkb:dementia
gptkb:depression cognitive decline memory loss anxiety difficulty swallowing irritability chorea impaired coordination involuntary movements obsessive-compulsive behaviors personality changes psychiatric symptoms speech difficulties |
| gptkbp:treatment |
symptomatic management
no cure |
| gptkbp:bfsParent |
gptkb:Vico_Therapeutics
|
| gptkbp:bfsLayer |
8
|